Associated Papers
Is 5-Oxoprolinase Deficiency More than Just a Benign Condition?
Kasapkara ÇS et al.
Molecular Syndromology, 2024
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
31942019 (PubMed )
Supplement: 41598_2019_57335_MOESM1_ESM.xlsx › Sup_table_1
Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families.
Sass JO et al.
Molecular Genetics and Metabolism, 2016
Five Chinese patients with 5-oxoprolinuria due to glutathione synthetase and 5-oxoprolinase deficiencies.
Li X et al.
Brain & Development, 2015
New insights into the genetics of 5-oxoprolinase deficiency and further evidence that it is a benign biochemical condition.
Calpena E et al.
European Journal of Pediatrics, 2015
5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense Changes.
Calpena E et al.
Jimd Reports, 2013
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